ATP2B1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 3328737	NM_001366521.1(ATP2B1):c.3641A>G (p.His1214Arg)	ATP2B1 (H1148R +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2672513	NM_001366521.1(ATP2B1):c.3635C>T (p.Pro1212Leu)	ATP2B1 (P1025L +10 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1710505	NM_001366521.1(ATP2B1):c.3632G>T (p.Ser1211Ile)	ATP2B1 (S1211I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 3328727	NM_001366521.1(ATP2B1):c.3597A>C (p.Glu1199Asp)	ATP2B1 (E1114D +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3328718	NM_001366521.1(ATP2B1):c.3593T>C (p.Ile1198Thr)	ATP2B1 (I1198T +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2503359	NM_001366521.1(ATP2B1):c.3557A>G (p.Asn1186Ser)	ATP2B1 (N1035S +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2530336	NM_001366521.1(ATP2B1):c.3550A>G (p.Asn1184Asp)	ATP2B1 (N1101D +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3328699	NM_001366521.1(ATP2B1):c.3542C>A (p.Pro1181His)	ATP2B1 (P1030H +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2369762	NM_001366521.1(ATP2B1):c.3541C>A (p.Pro1181Thr)	ATP2B1 (P1098T +10 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333279	NM_001366521.1(ATP2B1):c.3539C>A (p.Pro1180Gln)	ATP2B1 (P1029Q +10 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3233557	NM_001366521.1(ATP2B1):c.3455T>C (p.Ile1152Thr)	ATP2B1 (I1001T +10 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2095912	NM_001366521.1(ATP2B1):c.3453G>C (p.Arg1151Ser)	ATP2B1 (R1000S +10 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 784251	NM_001366521.1(ATP2B1):c.3420G>T (p.Ser1140=)	ATP2B1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 2444387	NM_001366521.1(ATP2B1):c.3367G>T (p.Ala1123Ser)	ATP2B1 (A1038S +13 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 3372626	NM_001366521.1(ATP2B1):c.3351+435C>T	ATP2B1 (P1072L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2378385	NM_001366521.1(ATP2B1):c.3238G>A (p.Glu1080Lys)	ATP2B1 (E1067K +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627844	NM_001366521.1(ATP2B1):c.3110C>G (p.Ser1037Ter)	ATP2B1 (S1024* +7 more)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1334402	NM_001366521.1(ATP2B1):c.3060+2T>G	ATP2B1	Single nucleotide variant (splice donor variant)	Hypocalcemia +4 more	GLikely pathogenic
Select item 2581374	NM_001366521.1(ATP2B1):c.3055G>C (p.Val1019Leu)	ATP2B1 (V1006L +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323474	NM_001366521.1(ATP2B1):c.3035T>C (p.Ile1012Thr)	ATP2B1 (I825T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245376	NM_001366521.1(ATP2B1):c.3000C>A (p.Phe1000Leu)	ATP2B1 (F1000L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3373430	NM_001366521.1(ATP2B1):c.2992A>C (p.Asn998His)	ATP2B1 (N811H +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679164	NM_001366521.1(ATP2B1):c.2972G>A (p.Arg991Gln)	ATP2B1 (R804Q +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2580931	NM_001366521.1(ATP2B1):c.2959G>T (p.Glu987Ter)	ATP2B1 (E800* +7 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal dominant 30	GLikely pathogenic
Select item 1334403	NM_001366521.1(ATP2B1):c.2938G>T (p.Val980Leu)	ATP2B1 (V793L +2 more)	Single nucleotide variant (missense variant)	Hypocalcemia +4 more	GLikely pathogenic
Select item 3340971	NM_001366521.1(ATP2B1):c.2912A>G (p.His971Arg)	ATP2B1 (H784R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2328352	NM_001366521.1(ATP2B1):c.2893C>G (p.His965Asp)	ATP2B1 (H880D +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131532	NM_001366521.1(ATP2B1):c.2842T>A (p.Phe948Ile)	ATP2B1 (F761I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505715	NM_001366521.1(ATP2B1):c.2819T>G (p.Leu940Arg)	ATP2B1 (L753R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2559878	NM_001366521.1(ATP2B1):c.2806G>A (p.Ala936Thr)	ATP2B1 (A749T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1878884	NM_001366521.1(ATP2B1):c.2749T>C (p.Tyr917His)	ATP2B1 (Y730H +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342278	NM_001366521.1(ATP2B1):c.2682G>A (p.Met894Ile)	ATP2B1 (M707I +7 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 1810713	NM_001366521.1(ATP2B1):c.2641C>A (p.Pro881Thr)	ATP2B1 (P815T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679165	NM_001366521.1(ATP2B1):c.2632C>T (p.Gln878Ter)	ATP2B1 (Q691* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 3373030	NM_001366521.1(ATP2B1):c.2620G>A (p.Ala874Thr)	ATP2B1 (A687T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3346536	NM_001366521.1(ATP2B1):c.2578C>T (p.Leu860Phe)	ATP2B1 (L673F +7 more)	Single nucleotide variant (missense variant +1 more)	ATP2B1-related disorder	GUncertain significance
Select item 1703507	NM_001366521.1(ATP2B1):c.2570A>G (p.Gln857Arg)	ATP2B1 (Q670R +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3338182	NM_001366521.1(ATP2B1):c.2558C>G (p.Ser853Ter)	ATP2B1 (S666* +7 more)	Single nucleotide variant (nonsense +1 more)	Autism	GLikely pathogenic
Select item 770776	NM_001366521.1(ATP2B1):c.2547T>C (p.Tyr849=)	ATP2B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2593337	NM_001366521.1(ATP2B1):c.2536C>T (p.Arg846Ter)	ATP2B1 (R780* +7 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3131531	NM_001366521.1(ATP2B1):c.2534G>A (p.Gly845Glu)	ATP2B1 (G760E +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317380	NM_001366521.1(ATP2B1):c.2533G>T (p.Gly845Ter)	ATP2B1 (G760* +7 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2683828	NM_001366521.1(ATP2B1):c.2509_2512del (p.Ser837fs)	ATP2B1 (S650fs +7 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GLikely pathogenic
Select item 3366135	NM_001366521.1(ATP2B1):c.2488C>T (p.Leu830Phe)	ATP2B1 (L643F +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2631726	NM_001366521.1(ATP2B1):c.2482ATT[1] (p.Ile829del)	ATP2B1 (I642del +7 more)	Microsatellite (inframe_deletion +1 more)	ATP2B1-related disorder	GLikely pathogenic
Select item 1679163	NM_001366521.1(ATP2B1):c.2470G>A (p.Glu824Lys)	ATP2B1 (E637K +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1712324	NM_001366521.1(ATP2B1):c.2426A>G (p.Asp809Gly)	ATP2B1 (D622G +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 2627882	NM_001366521.1(ATP2B1):c.2386G>A (p.Gly796Ser)	ATP2B1 (G609S +7 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 1679162	NM_001366521.1(ATP2B1):c.2365C>T (p.Arg789Cys)	ATP2B1 (R602C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 1801725	NM_001366521.1(ATP2B1):c.2359G>T (p.Asp787Tyr)	ATP2B1 (D600Y +7 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 2627861	NM_001366521.1(ATP2B1):c.2353G>A (p.Val785Ile)	ATP2B1 (V598I +7 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3364859	NM_001366521.1(ATP2B1):c.2338A>G (p.Ile780Val)	ATP2B1 (I593V +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2601163	NM_001366521.1(ATP2B1):c.2331del (p.Gly779fs)	ATP2B1 (G628fs +7 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2506001	NM_001366521.1(ATP2B1):c.2308_2310del (p.Pro770del)	ATP2B1 (P583del +7 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 3348079	NM_001366521.1(ATP2B1):c.2290G>C (p.Val764Leu)	ATP2B1 (V577L +7 more)	Single nucleotide variant (missense variant +1 more)	ATP2B1-related disorder	GUncertain significance
Select item 3372828	NM_001366521.1(ATP2B1):c.2285T>G (p.Leu762Arg)	ATP2B1 (L575R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1706695	NM_001366521.1(ATP2B1):c.2230C>T (p.Arg744Ter)	ATP2B1 (R557* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2227344	NM_001366521.1(ATP2B1):c.2114G>A (p.Arg705Gln)	ATP2B1 (R518Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068969	NM_001366521.1(ATP2B1):c.2067+3G>A	ATP2B1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 773679	NM_001366521.1(ATP2B1):c.2052T>C (p.Asp684=)	ATP2B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2570843	NM_001366521.1(ATP2B1):c.2005G>A (p.Asp669Asn)	ATP2B1 (D482N +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3131530	NM_001366521.1(ATP2B1):c.1995T>G (p.Asp665Glu)	ATP2B1 (D514E +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1684514	NM_001366521.1(ATP2B1):c.1907_1908del (p.Val636fs)	ATP2B1 (V449fs +2 more)	Microsatellite (frameshift variant)	Intellectual developmental disorder, autosomal dominant 66	GLikely pathogenic
Select item 2572324	NM_001366521.1(ATP2B1):c.1884C>T (p.Asp628=)	ATP2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3233326	NM_001366521.1(ATP2B1):c.1816A>G (p.Ile606Val)	ATP2B1 (I419V +7 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 1679167	NM_001366521.1(ATP2B1):c.1789C>T (p.Arg597Ter)	ATP2B1 (R410* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 3363581	NM_001366521.1(ATP2B1):c.1786T>C (p.Tyr596His)	ATP2B1 (Y409H +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373009	NM_001366521.1(ATP2B1):c.1627A>G (p.Asn543Asp)	ATP2B1 (N356D +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582467	NM_001366521.1(ATP2B1):c.1550G>C (p.Gly517Ala)	ATP2B1 (G330A +6 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 3131529	NM_001366521.1(ATP2B1):c.1538A>G (p.Tyr513Cys)	ATP2B1 (Y362C +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 982810	NM_001366521.1(ATP2B1):c.1376A>G (p.His459Arg)	ATP2B1 (H272R +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66 +1 more	GLikely pathogenic
Select item 2112721	NM_001366521.1(ATP2B1):c.1370_1373del (p.Val457fs)	ATP2B1 (V270fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1957331	NM_001366521.1(ATP2B1):c.1361A>G (p.Asn454Ser)	ATP2B1 (N454S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337832	NM_001366521.1(ATP2B1):c.1348A>G (p.Met450Val)	ATP2B1 (M263V +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3371691	NM_001366521.1(ATP2B1):c.1343A>C (p.Lys448Thr)	ATP2B1 (K261T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1679161	NM_001366521.1(ATP2B1):c.1274C>A (p.Thr425Lys)	ATP2B1 (T238K +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3365770	NM_001366521.1(ATP2B1):c.1238T>C (p.Ile413Thr)	ATP2B1 (I226T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2581682	NM_001366521.1(ATP2B1):c.1237A>G (p.Ile413Val)	ATP2B1 (I226V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1697311	NM_001366521.1(ATP2B1):c.1235A>G (p.Tyr412Cys)	ATP2B1 (Y225C +2 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 3131528	NM_001366521.1(ATP2B1):c.1212G>C (p.Trp404Cys)	ATP2B1 (W217C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3256693	NM_001366521.1(ATP2B1):c.1157T>C (p.Ile386Thr)	ATP2B1 (I199T +6 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 2463165	NM_001366521.1(ATP2B1):c.1147A>G (p.Ile383Val)	ATP2B1 (I298V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 768569	NM_001366521.1(ATP2B1):c.975C>A (p.Ala325=)	ATP2B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3368133	NM_001366521.1(ATP2B1):c.967G>T (p.Ala323Ser)	ATP2B1 (A172S +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3131536	NM_001366521.1(ATP2B1):c.950T>C (p.Ile317Thr)	ATP2B1 (I166T +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2339355	NM_001366521.1(ATP2B1):c.942T>A (p.Asp314Glu)	ATP2B1 (D163E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3372046	NM_001366521.1(ATP2B1):c.894A>C (p.Glu298Asp)	ATP2B1 (E147D +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 760163	NM_001366521.1(ATP2B1):c.828A>G (p.Thr276=)	ATP2B1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1679160	NM_001366521.1(ATP2B1):c.791C>T (p.Thr264Ile)	ATP2B1 (T198I +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3343695	NM_001366521.1(ATP2B1):c.767A>T (p.Lys256Met)	ATP2B1 (K105M +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2688644	NM_001366521.1(ATP2B1):c.758C>G (p.Ser253Cys)	ATP2B1 (S102C +3 more)	Single nucleotide variant (missense variant +2 more)	Intellectual developmental disorder, autosomal dominant 66	GUncertain significance
Select item 3369657	NM_001366521.1(ATP2B1):c.733G>T (p.Gly245Cys)	ATP2B1 (G160C +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1679159	NM_001366521.1(ATP2B1):c.716A>G (p.Asp239Gly)	ATP2B1 (D173G +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3251727	NM_001366521.1(ATP2B1):c.687A>G (p.Ile229Met)	ATP2B1 (I144M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601496	NM_001366521.1(ATP2B1):c.632C>T (p.Thr211Ile)	ATP2B1 (T211I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2615014	NM_001366521.1(ATP2B1):c.625G>C (p.Asp209His)	ATP2B1 (D209H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1679166	NM_001366521.1(ATP2B1):c.458G>A (p.Trp153Ter)	ATP2B1 (W153* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder +1 more	GLikely pathogenic
Select item 2309451	NM_001366521.1(ATP2B1):c.439G>C (p.Gly147Arg)	ATP2B1 (G147R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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